| H01006 | |
| H number | H01006 |
| Name | Hereditary angioedema |
| Description | Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, HAE types I and II, result from deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). Type I HAE is caused by decreased expression of C1INH in the plasma whereas type 2 HAE, consisting approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels. |
| Category | Cardiovascular disease |
| Network | nt06514 Coagulation cascade |
| Gene | (HAE1/2) SERPING1 [HSA:710] [KO:K04001] (HAE3) F12 [HSA:2161] [KO:K01328] (HAE4) PLG [HSA:5340] [KO:K01315] (HAE5) ANGPT1 [HSA:284] [KO:K05465] (HAE6) KNG1 [HSA:3827] [KO:K03898] (HAE7) MYOF [HSA:26509] [KO:K22125] (HAE8) HS3ST6 [HSA:64711] [KO:K09679] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Icatibant acetate [DR:D04492] Ecallantide [DR:D03931] Conestat alfa [DR:D10845] Lanadelumab [DR:D11094] Berotralstat hydrochloride [DR:D11674] Danazol [DR:D00289] |
| Comment | - |
| Other DBs | ICD-11: 4A00.14 ICD-10: D84.1 OMIM: 106100 610618 619360 619361 619363 619366 619367 |
| Reference | PMID:14572810 AUTHORS Davis AE 3rd TITLE The pathogenesis of hereditary angioedema. JOURNAL Transfus Apher Sci 29:195-203 (2003) DOI:10.1016/j.transci.2003.08.012 PMID:15596403 AUTHORS Davis AE 3rd TITLE The pathophysiology of hereditary angioedema. JOURNAL Clin Immunol 114:3-9 (2005) DOI:10.1016/j.clim.2004.05.007 PMID:17186468 AUTHORS Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM TITLE Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. JOURNAL Am J Hum Genet 79:1098-104 (2006) DOI:10.1086/509899 PMID:33799813 AUTHORS Farkas H, Doczy A, Szabo E, Varga L, Csuka D TITLE Screening for Plasminogen Mutations in Hereditary Angioedema Patients. JOURNAL Genes (Basel) 12:402 (2021) DOI:10.3390/genes12030402 PMID:28601681 AUTHORS Bafunno V, Firinu D, D'Apolito M, Cordisco G, Loffredo S, Leccese A, Bova M, Barca MP, Santacroce R, Cicardi M, Del Giacco S, Margaglione M TITLE Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. JOURNAL J Allergy Clin Immunol 141:1009-1017 (2018) DOI:10.1016/j.jaci.2017.05.020 PMID:33114181 AUTHORS Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, Gonzalez-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, Del Giacco S, Suffritti C, Makris M, Vatsiou S, Zanichelli A, Farkas H, Germenis AE TITLE Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. JOURNAL J Clin Med 9:E3402 (2020) DOI:10.3390/jcm9113402 PMID:34065094 AUTHORS Santacroce R, D'Andrea G, Maffione AB, Margaglione M, d'Apolito M TITLE The Genetics of Hereditary Angioedema: A Review. JOURNAL J Clin Med 10:2023 (2021) DOI:10.3390/jcm10092023 |